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  • Title: Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome.
    Author: Seeman P, Čejnová V, Černá Š, Rennerová L, Trková M, Kofer J, Laštůvková J.
    Journal: Clin Genet; 2022 Sep; 102(3):244-245. PubMed ID: 35726688.
    Abstract:
    Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of lower limbs.
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